Gene Variant Detail

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Gene CHEK2
Variant E161del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions CHEK2 E161del results in the deletion of an amino acid in the FHA domain of the Chek2 protein at amino acid 161 (UniProt.org). E161del confers a loss of function to the Chek2 protein as demonstrated by reduced tyrosine phosphorylation in response to DNA damage in culture (PMID: 16982735).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 E161del

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Transcript NM_007194.4
gDNA chr22:g.28725087_28725089delTCT
cDNA c.483_485delAGA
Protein p.E161delE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529843 chr22:g.28712018_28724888del12871 c.481_483del12871 p.N161delN RefSeq GRCh38/hg38
XM_011529844 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28725333_28725335delGTC c.481_483delGAC p.D161delD RefSeq GRCh38/hg38
XM_006724116 chr22:g.28696970_28696972delACC c.481_483delGGT p.G161delG RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28712018_28724888del12871 c.481_483del12871 p.N161delN RefSeq GRCh38/hg38
XM_011529845 chr22:g.28695823_28695825delTCT c.482_484delGAA p.R161delR RefSeq GRCh38/hg38
XM_011529840 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
XM_017028560.1 chr22:g.28725327_28725329delGCT c.481_483delAGC p.S161delS RefSeq GRCh38/hg38
XM_011529845.3 chr22:g.28695823_28695825delTCT c.482_484delGAA p.R161delR RefSeq GRCh38/hg38
XM_011529845.2 chr22:g.28695823_28695825delTCT c.482_484delGAA p.R161delR RefSeq GRCh38/hg38
XM_006724116.3 chr22:g.28696970_28696972delACC c.481_483delGGT p.G161delG RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
XM_006724116.2 chr22:g.28696970_28696972delACC c.481_483delGGT p.G161delG RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28725116_28725118delACC c.481_483delGGT p.G161delG RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28725116_28725118delACC c.481_483delGGT p.G161delG RefSeq GRCh38/hg38
XM_024452148.1 chr22:g.28725116_28725118delACC c.481_483delGGT p.G161delG RefSeq GRCh38/hg38
XM_011529842.3 chr22:g.28724915_28724917delATT c.481_483delAAT p.N161delN RefSeq GRCh38/hg38
NM_001005735 chr22:g.28725333_28725335delGTC c.481_483delGAC p.D161delD RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28725333_28725335delGTC c.481_483delGAC p.D161delD RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725087_28725089delTCT c.483_485delAGA p.E161delE RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725087_28725089delTCT c.483_485delAGA p.E161delE RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725087_28725089delTCT c.483_485delAGA p.E161delE RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28725300_28725302delCAG c.481_483delCTG p.L161delL RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28725116_28725118delACC c.481_483delGGT p.G161delG RefSeq GRCh38/hg38
NM_145862 chr22:g.28725087_28725089delTCT c.483_485delAGA p.E161delE RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725087_28725089delTCT c.483_485delAGA p.E161delE RefSeq GRCh38/hg38
XM_047441108.1 chr22:g.28699885_28699887delCTT c.482_484delAAG p.E161delE RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28725300_28725302delCAG c.481_483delCTG p.L161delL RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.28725327_28725329delGCT c.481_483delAGC p.S161delS RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28725333_28725335delGTC c.481_483delGAC p.D161delD RefSeq GRCh38/hg38
NM_001257387 chr22:g.28695823_28695825delTCT c.482_484delGAA p.R161delR RefSeq GRCh38/hg38
NM_001257387.2 chr22:g.28695823_28695825delTCT c.482_484delGAA p.R161delR RefSeq GRCh38/hg38
XM_017028560 chr22:g.28725327_28725329delGCT c.481_483delAGC p.S161delS RefSeq GRCh38/hg38
XM_011529841 chr22:g.28725333_28725335delGTC c.481_483delGAC p.D161delD RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28725333_28725335delGTC c.481_483delGAC p.D161delD RefSeq GRCh38/hg38
XM_011529842 chr22:g.28724915_28724917delATT c.481_483delAAT p.N161delN RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
XM_006724114.4 chr22:g.28699885_28699887delCTT c.482_484delAAG p.E161delE RefSeq GRCh38/hg38
NM_007194 chr22:g.28725087_28725089delTCT c.483_485delAGA p.E161delE RefSeq GRCh38/hg38
XM_011529842.2 chr22:g.28724915_28724917delATT c.481_483delAAT p.N161delN RefSeq GRCh38/hg38
XM_011529839 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
XM_017028561 chr22:g.28695823_28695825delTCT c.482_484delGAA p.R161delR RefSeq GRCh38/hg38
XM_006724114 chr22:g.28699916_28699918delAAA c.481_483delTTT p.F161delF RefSeq GRCh38/hg38
NM_001257387.1 chr22:g.28695823_28695825delTCT c.482_484delGAA p.R161delR RefSeq GRCh38/hg38
XM_011529839.2 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
XM_006724114.3 chr22:g.28699916_28699918delAAA c.481_483delTTT p.F161delF RefSeq GRCh38/hg38
XM_011529844.2 chr22:g.28725363_28725365delACA c.481_483delTGT p.C161delC RefSeq GRCh38/hg38
XM_017028561.2 chr22:g.28695823_28695825delTCT c.482_484delGAA p.R161delR RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28712018_28724888del12871 c.481_483del12871 p.N161delN RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Protein Effect Treatment Approaches
CHEK2 E161del loss of function Olaparib